Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999995 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:35923246T>CN/A show variant in all transcripts   IGV
HGNC symbol SLC26A8
Ensembl transcript ID ENST00000394602
Genbank transcript ID NM_138718
UniProt peptide Q96RN1
alteration type single base exchange
alteration region CDS
DNA changes c.1600A>G
cDNA.1766A>G
g.69400A>G
AA changes I534V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 534
frameshift no
known variant Reference ID: rs2295852
databasehomozygous (C/C)heterozygousallele carriers
1000G51910031522
ExAC80121674324755
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6440.003
-0.9660
(flanking)-0.5660.005
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased69404wt: 0.34 / mu: 0.44wt: CATTAACCTGATTCA
mu: CGTTAACCTGATTCA		 TTAA|cctg
Donor gained693990.62mu: TCCTCCGTTAACCTG CTCC|gtta
distance from splice site 52
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      534FENKLDPEASSINLIHCSHFESMN
mutated  all conserved    534FENKLDPEASSVNLIHCS
Ptroglodytes  all conserved  ENSPTRG00000018095  639FENKLDPEASSVNLIHCSHFESM
Mmulatta  all conserved  ENSMMUG00000008442  626FENKLDPDASSVNLIHCSHFESV
Fcatus  no alignment  ENSFCAG00000014824  n/a
Mmusculus  all identical  ENSMUSG00000036196  637YENRQEQD-SSINLIRCSYLGSG
Ggallus  not conserved  ENSGALG00000000844  576-------------LVKSCHIDS-
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
519970TOPO_DOMCytoplasmic (Potential).lost
543795DOMAINSTAS.might get lost (downstream of altered splice site)
560560CONFLICTS -> C (in Ref. 3; AAL26868/AAO26699).might get lost (downstream of altered splice site)
664970REGIONInteraction with RACGAP1.might get lost (downstream of altered splice site)
914914MUTAGENP->S: Not a cause of male infertility.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2598 / 2598
position (AA) of stopcodon in wt / mu AA sequence 866 / 866
position of stopcodon in wt / mu cDNA 2764 / 2764
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 167 / 167
chromosome 6
strand -1
last intron/exon boundary 2324
theoretical NMD boundary in CDS 2107
length of CDS 2598
coding sequence (CDS) position 1600
cDNA position
(for ins/del: last normal base / first normal base)		 1766
gDNA position
(for ins/del: last normal base / first normal base)		 69400
chromosomal position
(for ins/del: last normal base / first normal base)		 35923246
original gDNA sequence snippet TGGATCCCGAAGCATCCTCCATTAACCTGATTCACTGCTCA
altered gDNA sequence snippet TGGATCCCGAAGCATCCTCCGTTAACCTGATTCACTGCTCA
original cDNA sequence snippet TGGATCCCGAAGCATCCTCCATTAACCTGATTCACTGCTCA
altered cDNA sequence snippet TGGATCCCGAAGCATCCTCCGTTAACCTGATTCACTGCTCA
wildtype AA sequence MAQLERSAIS GFSSKSRRNS FAYDVKREVY NEETFQQEHK RKASSSGNMN INITTFRHHV
QCRCSWHRFL RCVLTIFPFL EWMCMYRLKD WLLGDLLAGI SVGLVQVPQG LTLSLLARQL
IPPLNIAYAA FCSSVIYVIF GSCHQMSIGS FFLVSALLIN VLKVSPFNNG QLVMGSFVKN
EFSAPSYLMG YNKSLSVVAT TTFLTGIIQI IGFTVIANKI SMATETSQTL IDMIPYSFLL
PVTPDFSLLP KIILQAFSLS LVSSFLLIFL GKKIASLHNY SVNSNQDLIA IGLCNVVSSF
FRSCVFTGAI ARTIIQDKSG GRQQFASLVG AGVMLLLMVK MGHFFYTLPN AVLAGIILSN
VIPYLETISN LPSLWRQDQY DCALWMMTFS SSIFLGLDIG LIISVVSAFF ITTVRSHRAK
ILLLGQIPNT NIYRSINDYR EIITIPGVKI FQCCSSITFV NVYYLKHKLL KEVDMVKVPL
KEEEIFSLFN SSDTNLQGGK ICRCFCNCDD LEPLPRILYT ERFENKLDPE ASSINLIHCS
HFESMNTSQT ASEDQVPYTV SSVSQKNQGQ QYEEVEEVWL PNNSSRNSSP GLPDVAESQG
RRSLIPYSDA SLLPSVHTII LDFSMVHYVD SRGLVVLRQI CNAFQNANIL ILIAGCHSSI
VRAFERNDFF DAGITKTQLF LSVHDAVLFA LSRKVIGSSE LSIDESETVI RETYSETDKN
DNSRYKMSSS FLGSQKNVSP GFIKIQQPVE EESELDLELE SEQEAGLGLD LDLDRELEPE
MEPKAETETK TQTEMEPQPE TEPEMEPNPK SRPRAHTFPQ QRYWPMYHPS MASTQSQTQT
RTWSVERRRH PMDSYSPEGN SNEDV*
mutated AA sequence MAQLERSAIS GFSSKSRRNS FAYDVKREVY NEETFQQEHK RKASSSGNMN INITTFRHHV
QCRCSWHRFL RCVLTIFPFL EWMCMYRLKD WLLGDLLAGI SVGLVQVPQG LTLSLLARQL
IPPLNIAYAA FCSSVIYVIF GSCHQMSIGS FFLVSALLIN VLKVSPFNNG QLVMGSFVKN
EFSAPSYLMG YNKSLSVVAT TTFLTGIIQI IGFTVIANKI SMATETSQTL IDMIPYSFLL
PVTPDFSLLP KIILQAFSLS LVSSFLLIFL GKKIASLHNY SVNSNQDLIA IGLCNVVSSF
FRSCVFTGAI ARTIIQDKSG GRQQFASLVG AGVMLLLMVK MGHFFYTLPN AVLAGIILSN
VIPYLETISN LPSLWRQDQY DCALWMMTFS SSIFLGLDIG LIISVVSAFF ITTVRSHRAK
ILLLGQIPNT NIYRSINDYR EIITIPGVKI FQCCSSITFV NVYYLKHKLL KEVDMVKVPL
KEEEIFSLFN SSDTNLQGGK ICRCFCNCDD LEPLPRILYT ERFENKLDPE ASSVNLIHCS
HFESMNTSQT ASEDQVPYTV SSVSQKNQGQ QYEEVEEVWL PNNSSRNSSP GLPDVAESQG
RRSLIPYSDA SLLPSVHTII LDFSMVHYVD SRGLVVLRQI CNAFQNANIL ILIAGCHSSI
VRAFERNDFF DAGITKTQLF LSVHDAVLFA LSRKVIGSSE LSIDESETVI RETYSETDKN
DNSRYKMSSS FLGSQKNVSP GFIKIQQPVE EESELDLELE SEQEAGLGLD LDLDRELEPE
MEPKAETETK TQTEMEPQPE TEPEMEPNPK SRPRAHTFPQ QRYWPMYHPS MASTQSQTQT
RTWSVERRRH PMDSYSPEGN SNEDV*
speed 0.73 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project